Gene mutations

I just got off the phone with the genetic counselor from Clinic. I asked her yesterday if they could get a copy of Olivia's mutations from Ambry Genetics because we've always had a hard time finding info on her secondary mutation. We've always thought she had 3859 delc but it turns out she has 3659 delc. There are about 200 people with her combination of mutations and 97% of them have pancreatic insufficiency issues.  It makes no difference in Olivia's treatment, but is fascinating to know.

October Clinic

Olivia had her quarterly CF Clinic appointment today. She got the flu shot and wasn't thrilled. 

Here are her stats. July's numbers are in parentheses. 

-Weight is 45.9 lbs (44.7lbs)
-Height is 47 1/8 inches (46 7/8 inches)
-Height/weight ratio 27% (23%)
-O2 Sat 98% (96%)
-FEV1 108% (95%) before Albuterol 119% (102%) after Albuterol
-Sputum culture - Pending

We're still battling her weight but it went up 4%. Her lung function increased 15% so that's AWESOME!!  Her genetic counselor is checking with Ambry Genetics to see what her mutations are. We know she definitely has Delta F508, but her secondary one is a question. It would be amazing to find out that it's something they're currently testing treatment for. 

I'll let you know what we find out. 

Here are some pictures of the day. 

    Olivia chilling out. 

Hannah truly chilling out. 

Right after the flu shot. 

Olivia smiling because she thought my face was silly when I was imitating her. 

Both girls out cold on the drive home. I find it hilarious that both heads are dropping to the same side.